Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2825208476

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1500739

ClinVar RCV Id: RCV002015882

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Ser123Cys	CA404076306 NM_000527.5:c.368C>G